Linked Data
dbSNP Id:
rs377060727
ExAC:
3:9517353 G / T
gnomAD v2:
3-9517353-G-T
gnomAD v3:
3-9475669-G-T
gnomAD v4:
3-9475669-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9475669G>T , CM000665.2:g.9475669G>T | GRCh38 |
| NC_000003.11:g.9517353G>T , CM000665.1:g.9517353G>T | GRCh37 |
| NC_000003.10:g.9492353G>T | NCBI36 |
| NG_034132.1:g.82970G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682236.1:n.2862G>T | ||
| ENST00000682536.1:c.4003G>T | ENSP00000507956.1:p.Ala1335Ser | |
| ENST00000687014.1:n.4896G>T | ||
| ENST00000689167.1:n.2287G>T | ||
| ENST00000691925.1:n.6704G>T | ||
| ENST00000693430.1:n.6149G>T | ||
| ENST00000402198.7:c.3907G>T MANE Select | ENSP00000385852.2:p.Ala1303Ser | |
| ENST00000663774.1:c.*4053G>T | ENSP00000499452.1:n.*4053G>T | |
| ENST00000665872.1:c.*3976G>T | ENSP00000499600.1:n.*3976G>T | |
| ENST00000666307.1:c.*4281G>T | ENSP00000499402.1:n.*4281G>T | |
| ENST00000670063.1:c.*4012G>T | ENSP00000499725.1:n.*4012G>T | |
| ENST00000302463.10:c.3613G>T | ENSP00000302028.6:p.Ala1205Ser | |
| ENST00000399686.6:c.2722+513G>T | ||
| ENST00000402198.5:c.3907G>T | ENSP00000385852.1:p.Ala1303Ser | |
| ENST00000406341.5:c.3907G>T | ENSP00000383939.1:p.Ala1303Ser | |
| ENST00000407969.5:c.3964G>T | ENSP00000384114.1:p.Ala1322Ser | |
| ENST00000413704.5:c.2943G>T | ||
| ENST00000459941.1:n.1038G>T | ||
| ENST00000466242.5:n.3248G>T | ||
| ENST00000493918.5:n.4071G>T | ||
| NM_001080517.2:c.3907G>T | NP_001073986.1:p.Ala1303Ser | |
| NM_001292043.1:c.3613G>T | NP_001278972.1:p.Ala1205Ser | |
| XM_005265301.1:c.3964G>T | XP_005265358.1:p.Ala1322Ser | |
| XM_005265303.1:c.3907G>T | XP_005265360.1:p.Ala1303Ser | |
| XM_011533920.1:c.4081G>T | XP_011532222.1:p.Ala1361Ser | |
| XM_011533921.1:c.4081G>T | XP_011532223.1:p.Ala1361Ser | |
| XM_011533922.1:c.4060G>T | XP_011532224.1:p.Ala1354Ser | |
| XM_011533923.1:c.4060G>T | XP_011532225.1:p.Ala1354Ser | |
| XM_011533924.1:c.4060G>T | XP_011532226.1:p.Ala1354Ser | |
| XM_011533925.1:c.4042G>T | XP_011532227.1:p.Ala1348Ser | |
| XM_011533926.1:c.4024G>T | XP_011532228.1:p.Ala1342Ser | |
| XM_011533927.1:c.4024G>T | XP_011532229.1:p.Ala1342Ser | |
| XM_011533928.1:c.4003G>T | XP_011532230.1:p.Ala1335Ser | |
| XM_011533929.1:c.3985G>T | XP_011532231.1:p.Ala1329Ser | |
| XM_011533930.1:c.3946G>T | XP_011532232.1:p.Ala1316Ser | |
| XM_011533931.1:c.3670G>T | XP_011532233.1:p.Ala1224Ser | |
| XM_011533932.1:c.3631G>T | XP_011532234.1:p.Ala1211Ser | |
| XM_011533933.1:c.3631G>T | XP_011532235.1:p.Ala1211Ser | |
| NM_001349451.1:c.3613G>T | NP_001336380.1:p.Ala1205Ser | |
| XM_011533921.2:c.4081G>T | XP_011532223.1:p.Ala1361Ser | |
| XM_017006767.1:c.4081G>T | XP_016862256.1:p.Ala1361Ser | |
| XM_017006768.2:c.4060G>T | XP_016862257.1:p.Ala1354Ser | |
| XM_017006770.1:c.4024G>T | XP_016862259.1:p.Ala1342Ser | |
| XM_017006771.1:c.4021G>T | XP_016862260.1:p.Ala1341Ser | |
| XM_017006772.1:c.3985G>T | XP_016862261.1:p.Ala1329Ser | |
| XM_017006773.1:c.3985G>T | XP_016862262.1:p.Ala1329Ser | |
| XM_017006774.1:c.3964G>T | XP_016862263.1:p.Ala1322Ser | |
| XM_017006775.1:c.3928G>T | XP_016862264.1:p.Ala1310Ser | |
| XM_017006776.1:c.3670G>T | XP_016862265.1:p.Ala1224Ser | |
| XM_017006777.1:c.3670G>T | XP_016862266.1:p.Ala1224Ser | |
| XM_017006778.1:c.3670G>T | XP_016862267.1:p.Ala1224Ser | |
| XM_017006779.1:c.3631G>T | XP_016862268.1:p.Ala1211Ser | |
| XM_017006780.1:c.3631G>T | XP_016862269.1:p.Ala1211Ser | |
| XM_017006783.1:c.3403G>T | XP_016862272.1:p.Ala1135Ser | |
| XM_024453620.1:c.4042G>T | XP_024309388.1:p.Ala1348Ser | |
| XM_024453621.1:c.3718G>T | XP_024309389.1:p.Ala1240Ser | |
| XR_001740195.2:n.8290G>T | ||
| NM_001080517.3:c.3907G>T MANE Select | NP_001073986.1:p.Ala1303Ser | |
| NM_001292043.2:c.3613G>T | NP_001278972.1:p.Ala1205Ser | |
| NM_001349451.2:c.3613G>T | NP_001336380.1:p.Ala1205Ser |